GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers

N-methyl-D-aspartate receptors (NMDARs) are ligand-gated cation channels that mediate excitatory synaptic transmission. Genetic mutations in multiple NMDAR subunits cause various childhood epilepsy syndromes. Here, we report a de novo recurrent heterozygous missense mutation—c.1999G>A (p.Val667Il...

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Publicado en:Am J Hum Genet
Autores principales: Li, Dong, Yuan, Hongjie, Ortiz-Gonzalez, Xilma R., Marsh, Eric D., Tian, Lifeng, McCormick, Elizabeth M., Kosobucki, Gabrielle J., Chen, Wenjuan, Schulien, Anthony J., Chiavacci, Rosetta, Tankovic, Anel, Naase, Claudia, Brueckner, Frieder, von Stülpnagel-Steinbeis, Celina, Hu, Chun, Kusumoto, Hirofumi, Hedrich, Ulrike B.S., Elsen, Gina, Hörtnagel, Konstanze, Aizenman, Elias, Lemke, Johannes R., Hakonarson, Hakon, Traynelis, Stephen F., Falk, Marni J.
Formato: Artigo
Lenguaje:Inglês
Publicado: Elsevier 2016
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Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5065652/
https://ncbi.nlm.nih.gov/pubmed/27616483
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2016.07.013
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